Ohtahara syndrome with biotinidase deficiency

J Child Neurol. 2011 Apr;26(4):507-9. doi: 10.1177/0883073810383018. Epub 2010 Nov 29.


Ohtahara syndrome is a rare epileptic encephalopathy in infants; the underlying etiology is generally thought to be structural brain malformations. The authors present a rare case of this type of epileptic encephalopathy in which a treatable metabolic condition such as biotinidase deficiency was suspected and diagnosed, and early institution of appropriate therapy led to a good clinical outcome.

Publication types

  • Case Reports

MeSH terms

  • Biotinidase Deficiency / complications*
  • Brain Diseases / complications*
  • Epilepsy / complications*
  • Humans
  • Infant
  • Male